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Relevance to Autism

A de novo missense variant in the KIF14 gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the KIF14 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 3 CNVs from SCZ cases (5 total) vs. 0 CNVs in controls (Odds ratio 6.55, P = 1.0E-05)].

Molecular Function

This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. Biallelic mutations in this gene are responsible for an autosomal recessive form of microcephaly (autosomal recessive primary microcephaly-20 or MCPH20; OMIM 617914); autistic features were reported in both affected siblings from one of four families with this disorder in Makrythanasis et al., 2018.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Autosomal recessive primary microcephaly-20 (MCPH2
Autistic features
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
DD
Recent Recommendation
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
ASD, SCZ
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1044R001 
 missense_variant 
 c.1367C>T 
 p.Thr456Met 
 De novo 
  
 Simplex 
 GEN1044R002 
 synonymous_variant 
 c.711G>A 
 p.Thr237= 
 De novo 
  
 Simplex 
 GEN1044R003 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1044R004 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1044R005 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1044R006 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1044R007 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1044R008 
 missense_variant 
 c.4425A>C 
 p.Lys1475Asn 
 Unknown 
  
  
 GEN1044R009 
 missense_variant 
 c.3920C>T 
 p.Thr1307Ile 
 De novo 
  
  
 GEN1044R010a 
 missense_variant 
 c.1927C>G 
 p.Gln643Glu 
 Familial 
 Both parents 
  
  et al.  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Deletion-Duplication
 19
 

No Animal Model Data Available

 

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